Mitochondrial disorders
Gene: ETHE1Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 2 Mar 2016, 11:52 a.m.
Comment on list classification: Promoted from red to green, as it has a green rating from an expert and is a confirmed DD gene for ethylmalonic encephalopathy.Created: 2 Mar 2016, 11:52 a.m.
Victorian Clinical Genetics Services was added to ETHE1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for ETHE1 were set to Isolated complex IV deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Ethylmalonic encephalopathy, 602473; Ethylmalonic encephalopathy
Mode of inheritance for ETHE1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ETHE1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ETHE1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ETHE1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen